Читать книгу Assisted Reproduction Techniques - Группа авторов - Страница 57

Historically, men with CBAVD were considered sterile and their female partners were offered treatment with cystic fibrosis–negative sperm donation. Since the introduction of surgical sperm retrieval and intra‐cytoplasmic sperm injection (ICSI), assisted conception treatment has become a realistic treatment option to enable these men to conceive their own genetic child. Percutaneous epididymal sperm aspiration (PESA) under local anesthesia with or without sedation is usually performed on the same day as oocyte retrieval. Typically, a large number of motile sperm is retrieved, which is used for ICSI and could possibly allow for sperm cryopreservation for future use.

If the female partner was found to be a carrier of a cystic fibrosis mutation, in conjunction with ICSI and where expertise and facilities allow, the couple would ideally be offered preimplantation genetic testing (PGT) to ensure only embryos unaffected by cystic fibrosis are transferred in utero. PGT has the ability to reduce the couple’s reproductive risk of conceiving an affected child from 50% to <1%. PGT is performed on amplified DNA extracted from a trophectoderm biopsy obtained from a day 5 or 6 blastocyst‐stage embryo using whole genome amplification (WGA) and preimplantation genetic haplotyping (PGH) after establishing phase using blood samples obtained from the male partner’s parents [5].

Alternatively, the couple could opt for PESA and ICSI followed by prenatal testing by chorionic villus sampling (CVS) or amniocentesis with termination of an affected pregnancy. If the couple in Case History 1 object to termination of pregnancy due to social, cultural or religious reasons, they could opt for either PGT or use sperm donated from a cystic fibrosis–negative donor.